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Article

Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.

Biochimica et biophysica acta - 14 Apr 1992

McInnes B, Brown C A, Mahuran D J

Abstract excerpt

Lysosomal beta-hexosaminidase (EC 3.2.1.52) occurs as two major isozymes hexosaminidase A (alpha beta) and B (beta beta). The alpha subunit is encoded by the HEXA gene and the beta subunit by HEXB gene. Defects in the alpha or beta subunits lead to Tay-Sachs or Sandhoff disease, respectively. While many HEXA gene mutations have been reported only three HEXB gene mutations are known. We report the characterization...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 1532910
DOI: 10.1016/0925-4439(92)90009-c

Genes

HEXB
HEXA
AGA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Two small deletion mutations of the HEXB gene are present in DNA from a patient with infantile Sandhoff disease.PMID 1532910Read ↗

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.Semantic proximity Read ↗

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.Semantic proximity Read ↗

Structure and distribution of an Alu-type deletion mutation in Sandhoff disease.Semantic proximity Read ↗

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Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease.Semantic proximity Read ↗

Compound heterozygosity with two novel mutations in the HEXB gene produces adult Sandhoff disease presenting as a motor neuron disease phenotype.Semantic proximity Read ↗

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